Results 141 to 150 of about 12,812 (223)

"Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II": Case Report. [PDF]

Indian J Clin Biochem, 2023
Keshri S, Goel AK, Johns J, Shah S.
europepmc   +1 more source

Glutaric Aciduria Type II With Ketosis in a Male Infant. [PDF]

Cureus, 2021
Tandon K, Tandon R, Patel M, Parikh C, Upadhyay H.   +4 more
europepmc   +1 more source

Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients. [PDF]

JIMD Rep, 2022
Healy L, O'Shea M, McNulty J, King G, Twomey E, Treacy E, Crushell E, Hughes J, Knerr I, Monavari AA.   +9 more
europepmc   +1 more source

Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1. [PDF]

AJNR Am J Neuroradiol, 2021
Ntorkou AA, Daire J, Renaldo F, Doummar D, Alison M, Schiff M, Elmaleh-Bergès M.   +6 more
europepmc   +1 more source

Role of glutaric aciduria type 1 in movement disorders

Annals of Movement Disorders, 2022
Jamir P Rissardo, Ana L Fornari Caprara
doaj   +1 more source

Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1. [PDF]

Open Biol, 2022
Leandro J, Khamrui S, Suebsuwong C, Chen PJ, Secor C, Dodatko T, Yu C, Sanchez R, DeVita RJ, Houten SM, Lazarus MB.   +10 more
europepmc   +1 more source

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant. [PDF]

Orphanet J Rare Dis
Parvini F, Ajam-Hosseini M, Shadpour M.
europepmc   +1 more source

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients. [PDF]

Genes (Basel), 2021
Ali A, Almesmari FSA, Dhahouri NA, Saleh Ali AM, Aldhanhani MAAMA, Vijayan R, Al Tenaiji A, Al Shamsi A, Hertecant J, Al Jasmi F.   +9 more
europepmc   +1 more source

Glutaric aciduria type1: CT diagnosis

Journal of Pediatric Neurosciences, 2009
openaire   +3 more sources

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China. [PDF]

Front Genet, 2021
E H, Liang L, Zhang H, Qiu W, Ye J, Xu F, Gong Z, Gu X, Han L.   +8 more
europepmc   +1 more source